Publications by authors named "E V Zaklyazminskaya"
Novel Mutation Lys30Glu in the Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosin.
Elena V Zaklyazminskaya Victoria V Nefedova Natalia A Koubassova Natalia P Kotlukova Galina V Kopylova
Int J Mol Sci
December 2024
Pediatric dilated cardiomyopathy (DCM) is a rare heart muscle disorder leading to the enlargement of all chambers and systolic dysfunction. We identified a novel de novo variant, c.88A>G (p.
View Article and Find Full Text PDFThe review is devoted to molecular genetic factors of hemostasis system in assessing the risk of arterial and venous thrombosis in microvascular surgery. In modern reconstructive surgery, one can trace a tendency towards preoperative management taking into account molecular-genetic risk factors of hemostatic disorders for prevention of intravascular thrombosis. The importance of multidisciplinary concept in prevention is undeniable.
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- Recent analysis identified over 400 damaging missense ACE mutations, suggesting that carriers of heterozygous loss-of-function ACE mutations may be at risk for late-onset Alzheimer's disease (AD).
- A study measuring blood ACE levels in 41 subjects with different heterozygous mutations revealed that certain mutations (Y215C and G325R) significantly reduced ACE levels, while the R1250Q mutation did not impact ACE levels.
- The findings indicate that measuring blood ACE levels in patients with ACE mutations could help identify those at increased risk for AD, potentially guiding future preventive treatments involving chaperones and proteasome inhibitors to improve ACE function.
New Recessive Dystrophic Epidermolysis Bullosa intermediate variant resulting from alternative splicing of exon 19 and truncation in FN III-like domain of type VII collagen.
Aleksandra A Martynova Alexey A Kubanov Nadezhda A Evtushenko Anastasiya V Kosykh Nikolay V Kondratyev Elena V Zaklyazminskaya
Br J Dermatol
October 2024
Article Synopsis
- The study investigated post-COVID myocarditis in 10 patients with various cardiomyopathies (CMPs) following COVID-19 infection, focusing on their clinical outcomes.
- A range of CMPs were identified in the patients, including left ventricular non-compaction, dilated cardiomyopathy, and AL cardiac amyloidosis, with all undergoing detailed cardiac evaluations.
- Post-COVID myocarditis was confirmed in six patients, showing improvements in heart function when treated with immunosuppressive corticosteroids; this highlighted the importance of monitoring arrhythmias and heart failure in CMP patients after COVID-19.